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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
Summary
- Synonym
-
- IBMPFD1
- MSP1
- multisystem proteinopathy 1
- Definition
- An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
- Super Class
- autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia
External Links
- Disease Ontology
- DOID:0111385
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012444 | Brain atrophy |
| HP:0012548 | Fatty replacement of skeletal muscle |
| HP:0003596 | Middle age onset |
| HP:0002505 | Loss of ambulation |
| HP:0001332 | Dystonia |
| HP:0008988 | Pelvic girdle muscle atrophy |
| HP:0000726 | Dementia |
| HP:0003691 | Scapular winging |
| HP:0007112 | Temporal cortical atrophy |
| HP:0002938 | Lumbar hyperlordosis |
